ABCB11 p.Glu283Asp
| Predicted by SNAP2: | A: D (80%), C: D (80%), D: D (80%), F: D (91%), G: D (85%), H: D (91%), I: D (91%), K: D (91%), L: D (91%), M: D (85%), N: D (91%), P: D (95%), Q: D (75%), R: D (91%), S: D (85%), T: D (91%), V: D (91%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Hypothyroidism Associated with ATP8B1 Deficiency. J Pediatr. 2015 Dec;167(6):1334-1339.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15. Li L, Deheragoda M, Lu Y, Gong J, Wang J
Hypothyroidism Associated with ATP8B1 Deficiency.
J Pediatr. 2015 Dec;167(6):1334-1339.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15., [PMID:26382629]
Abstract [show]
OBJECTIVE: To examine whether hypothyroidism is an extrahepatic feature of ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1) deficiency. STUDY DESIGN: Children with normal gamma-glutamyltransferase cholestasis (n = 47; 13 patients with ATP8B1 deficiency, 19 with ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11) deficiency, and 15 without either ATP8B1 or ABCB11 mutations) were enrolled. Clinical information and thyroid function test results were retrospectively retrieved from clinical records and compared. Hypothyroidism was diagnosed by clinical-biochemistry criteria (thyroid function test results). RESULTS: Three out of 13 patients with ATP8B1 deficiency were diagnosed as hypothyroid and 2 as subclinically hypothyroid. The frequency of hypothyroidism and subclinical hypothyroidism was significantly higher than in patients with ABCB11 deficiency (5/13 vs 0/19, P = .006) and in patients without ATP8B1 or ABCB11 mutations (5/13 vs 0/15, P = .013). Thyroid function test results normalized after hormone replacement in all 5 patients, with no relief of cholestasis. CONCLUSIONS: As hypothyroidism can be another extrahepatic feature of ATP8B1 deficiency, thyroid function should be monitored in these patients.
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No. Sentence Comment
71 ABCB11 mutations and immunostaining in patients with ABCB11 mutations Patient ID Sex Nucleotide change Amino acid change Mutation origin BSEP expression GGT expression 244 Female c.145C>T/- p.Q49X/- Paternal/- Absent Normal 653 Female c.1197+1G>T/c.1197+1G>T -/- Paternal/maternal Not assessed Not assessed 727 Male c.2782C>T/c.3593A>G p.R928X/p.H1198R Maternal/paternal Not assessed Not assessed 889 Female c.3457C>T/c.3623A>G p.R1153C/p.Y1208C Paternal/maternal Absent Normal 919 Female c.1493T>C/c.1493T>C p.I498T/p.I498T Paternal/maternal Not assessed Not assessed 996 Male c.612-2_4 CTA>TT/- -/- Maternal/- Absent Normal 1022 Male c.212T>A/c.677C>T p.L71H/p.S226L Paternal/maternal Absent Normal 1131 Male c.409G>A/c.2216delC p.E137K/p.P740QfsX6 De novo/paternal Absent Normal 1134 Male c.1760C>G/c.3677G>C p.S587X/p.R1226P Maternal/paternal Absent Absent 1139 Female c.2935A>G/c.3746T>G p.N979D/p.L1249X Not assessed Not assessed Not assessed 1140 Male c.542G>T/c.1370_1372dupGTG p.R181I/p.V458dup Maternal/paternal Not assessed Not assessed 1219 Female c.872T>C/c.3691C>T p.V291A/p.R1231W Maternal/paternal Not assessed Not assessed 334* Female c.2944G>A/- p.G982R/- Not assessed Normal Normal 802* Female c.3458G>A/- p.R1153H/- Not assessed Not assessed Not assessed 862* Male c.634G>A/c.849A>C/c.1638G>T p.A212T/p.E283D/p.Q546H Maternal/maternal/de novo Not assessed Not assessed 864* Male c.1727A>G/- p.N576S/- Paternal/- Normal Normal 1165* Male c.1583T>C/c.1583T>C p.I528T/p.I528T Not assessed Not assessed Not assessed 1167* Male c.334A>G/c.3233T>C p.I112V/p.I1078T Not assessed Not assessed Not assessed 1242* Male c.2783G>A/- p.R928Q/- Not assessed Not assessed Not assessed Bold: Novel mutation.
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ABCB11 p.Glu283Asp 26382629:71:1323
status: NEW96 Predicted effects of novel missense mutations identified in ABCB11 Missense variants Mutation taster Polyphen-2 SIFT Prediction P value Prediction Score Prediction Score c.212T>A,p.L71H Disease causing .998 Possibly damaging 0.855 Tolerated 0.11 c.334A>G,p.I112V Disease causing .999 Probably damaging 0.927 Tolerated 0.53 c.542G>T,p.R181I Disease causing .999 Benign 0.262 Damaging 0.01 c.634G>A,p.A212T Disease causing .999 Probably damaging 0.917 Damaging 0 c.849A>C,p.E283D Disease causing .999 Probably damaging 0.996 Damaging 0 c.872T>C,p.V291A Disease causing .999 Probably damaging 0.999 Damaging 0.04 c.1583T>C,p.I528T Disease causing .999 Possibly damaging 0.745 Damaging 0 c.1638G>T,p.Q546H Disease causing .999 Possibly damaging 0.800 Tolerated 0.303 c.1727A>G,p.N576S Disease causing .999 Probably damaging 0.816 Damaging 0 c.3233T>C,p.I1078T Disease causing .999 Benign 0.230 Damaging 0.02 c.3623A>G,p.Y1208C Disease causing .999 Probably damaging 1.000 Damaging 0 c.3677G>C,p.R1226P Disease causing .999 Probably damaging 1.000 Damaging 0 Prediction date, June 14, 2015; reference sequence NM_003742.2.
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ABCB11 p.Glu283Asp 26382629:96:472
status: NEW